| GestaltMatcher facilitates rare disease matching using facial phenotype descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... Nature genetics 54 (3), 349-357, 2022 | 98 | 2022 |
| The protective role of macrophage migration inhibitory factor in acute kidney injury after cardiac surgery C Stoppe, L Averdunk, A Goetzenich, J Soppert, A Marlier, S Kraemer, ... Science translational medicine 10 (441), eaan4886, 2018 | 94 | 2018 |
| Interaction of MIF family proteins in myocardial ischemia/reperfusion damage and their influence on clinical outcome of cardiac surgery patients C Stoppe, S Rex, A Goetzenich, S Kraemer, C Emontzpohl, J Soppert, ... Antioxidants & redox signaling 23 (11), 865-879, 2015 | 64 | 2015 |
| Soluble CD74 reroutes MIF/CXCR4/AKT‐mediated survival of cardiac myofibroblasts to necroptosis J Soppert, S Kraemer, C Beckers, L Averdunk, J Möllmann, B Denecke, ... Journal of the American Heart Association 7 (17), e009384, 2018 | 51 | 2018 |
| MIF-2/D-DT enhances proximal tubular cell regeneration through SLPI-and ATF4-dependent mechanisms A Ochi, D Chen, W Schulte, L Leng, N Moeckel, M Piecychna, L Averdunk, ... American Journal of Physiology-Renal Physiology 313 (3), F767-F780, 2017 | 45 | 2017 |
| Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex RJ Falb, AJ Müller, W Klein, M Grimmel, U Grasshoff, S Spranger, P Stöbe, ... Journal of medical genetics 60 (1), 48-56, 2023 | 30 | 2023 |
| Secretory Leukocyte Protease Inhibitor (SLPI)—a novel predictive biomarker of acute kidney injury after cardiac surgery: a prospective observational study L Averdunk, C Fitzner, T Levkovich, DE Leaf, M Sobotta, J Vieten, A Ochi, ... Journal of clinical medicine 8 (11), 1931, 2019 | 29 | 2019 |
| D‐dopachrome tautomerase in adipose tissue inflammation and wound repair BS Kim, PV Tilstam, SS Hwang, D Simons, W Schulte, L Leng, M Sauler, ... Journal of cellular and molecular medicine 21 (1), 35-45, 2017 | 27 | 2017 |
| SLPI-a biomarker of acute kidney injury after open and endovascular thoracoabdominal aortic aneurysm (TAAA) repair L Averdunk, MV Rückbeil, A Zarbock, L Martin, G Marx, H Jalaie, ... Scientific reports 10 (1), 3453, 2020 | 26 | 2020 |
| De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus S Galosi, BH Edani, S Martinelli, H Hansikova, EA Eklund, C Caputi, ... Brain 145 (1), 208-223, 2022 | 17 | 2022 |
| Myocardial ischemia induces SDF-1α release in cardiac surgery patients BS Kim, D Jacobs, C Emontzpohl, A Goetzenich, J Soppert, M Jarchow, ... Journal of cardiovascular translational research 9, 230-238, 2016 | 17 | 2016 |
| The Macrophage Migration Inhibitory Factor (MIF) Promoter Polymorphisms (rs3063368, rs755622) Predict Acute Kidney Injury and Death after Cardiac Surgery L Averdunk, J Bernhagen, K Fehnle, H Surowy, HJ Lüdecke, S Mucha, ... Journal of Clinical Medicine 9 (9), 2936, 2020 | 14 | 2020 |
| GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... medRxiv, 2020.12. 28.20248193, 2021 | 7 | 2021 |
| Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings A Schmidt, M Danyel, K Grundmann, T Brunet, H Klinkhammer, TC Hsieh, ... MedRxiv, 2023.04. 19.23288824, 2023 | 6 | 2023 |
| Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence L Averdunk, MA Huetzen, D Moreno-Andrés, R Kalb, S McKee, TC Hsieh, ... Genetics in Medicine 25 (7), 100836, 2023 | 5 | 2023 |
| Recognizable pattern of arthrogryposis and congenital myopathy caused by the recurrent TTN metatranscript-only c. 39974-11T> G splice variant L Averdunk, S Donkervoort, D Horn, S Waldmüller, S Syeda, SB Neuhaus, ... Neuropediatrics 53 (05), 309-320, 2022 | 4 | 2022 |
| The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype L Averdunk, H Sticht, H Surowy, HJ Lüdecke, M Koch-Hogrebe, HS Alsaif, ... Journal of Molecular Medicine 99, 1755-1768, 2021 | 3 | 2021 |
| Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain L Averdunk, K Al‐Thihli, H Surowy, HJ Lüdecke, M Drechsler, G Yigit, ... Clinical Genetics 103 (4), 484-491, 2023 | 1 | 2023 |
| Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals DE Layo-Carris, EE Lubin, AK Sangree, KJ Clark, EL Durham, ... European Journal of Human Genetics, 1-10, 2024 | | 2024 |
| GestaltMatcher Database-A global reference for the facial phenotypic variability of rare human diseases. H Lesmann, A Hustinx, S Moosa, E Marchi, P Caro, IM Abdelrazek, ... Medrxiv: the Preprint Server for Health Sciences, 2023.06. 06.23290887-2023 …, 2024 | | 2024 |
